Aug. 05, 2026
A multidisciplinary program is advancing care for patients with Bardet-Biedl syndrome at Mayo Clinic. Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by multisystem involvement, including early-onset hyperphagia and obesity, retinal dystrophy, polydactyly, renal abnormalities, and neurodevelopmental impairment, among other clinical manifestations. The complexity of BBS necessitates comprehensive, multidisciplinary care across specialties and throughout the lifespan. At Mayo Clinic, a dedicated program has been established to meet this need.
Patients with BBS often present with overlapping clinical challenges that cannot be managed effectively within a single specialty. Mayo Clinic's program integrates specialists from pediatric endocrinology, adult endocrinology, clinical genomics, nephrology, ophthalmology, physical medicine and rehabilitation, nutrition education, and behavioral health to deliver coordinated care tailored to each patient's needs. This integrated approach reflects Mayo Clinic's long-standing commitment to multidisciplinary collaboration in the management of complex diseases while delivering personalized care.
A distinguishing feature of this initiative is its emphasis on lifespan care, integrating both pediatric and adult endocrinology to support individuals with Bardet-Biedl syndrome across every stage of life. While many individuals with Bardet-Biedl syndrome are diagnosed in childhood, the condition persists into adulthood with evolving clinical needs. To ensure continuity of care: "Our goal is to provide seamless endocrine care as patients transition from childhood to adulthood, ensuring that their changing medical needs are addressed proactively and comprehensively," Kalpana Muthusamy, M.D., says. Dr. Muthusamy is an endocrinologist at Mayo Clinic in Rochester, Minnesota, who serves as the specialist for adult patients within the BBS program. This role is critical in managing long-term endocrine and metabolic complications, including obesity, insulin resistance and other chronic sequelae that require ongoing attention in adult patients.
"By bringing pediatric and adult specialists together, we can create a lifelong care pathway that helps patients and families navigate the complexities of Bardet-Biedl syndrome with greater confidence and support," says Seema Kumar, M.D., co-director of the BBS program and a pediatric endocrinologist at Mayo Clinic in Rochester, Minnesota. This integration minimizes the fragmentation that can occur during transition from pediatric to adult care. This approach is particularly important in chronic genetic conditions such as BBS, where consistent management over time is essential to optimizing patient outcomes.
Specialists providing expertise in genetic evaluation of patients with BBS include Lisa A. Schimmenti, M.D., co-director of the BBS program and a pediatric medical geneticist at Mayo Clinic in Rochester, Minnesota, and Brendan C. Lanpher, M.D., a medical geneticist at Mayo Clinic in Rochester, Minnesota. The evaluation includes advanced testing, interpretation and counseling.
The program also emphasizes close collaboration among subspecialties. Brittni A. Scruggs, M.D., Ph.D., a vitreoretinal surgeon at Mayo Clinic in Rochester, Minnesota, and Carl H. Cramer II, M.D., a nephrologist at Mayo Clinic in Rochester, Minnesota, are crucial members of this multidisciplinary team with their expertise for both adult and pediatric patients with BBS. Mayo Clinic's broader care model, in which specialists routinely partner across disciplines, supports this level of coordination and shared decision-making.
Beyond clinical care, the program contributes to advancing the understanding of Bardet-Biedl syndrome through research and innovation. These efforts align with Mayo Clinic's broader commitment to individualized medicine, where genomic insights are leveraged to improve patient outcomes. Several members of the multidisciplinary team co-authored a recent publication in the American Journal of Medical Genetics that introduced revised diagnostic criteria for Bardet-Biedl syndrome, representing an important step forward in improving diagnostic accuracy and clinical recognition.
In summary, this multidisciplinary program represents a comprehensive, forward-looking model for the care of patients with Bardet-Biedl syndrome. It exemplifies Mayo Clinic's strengths in teamwork, innovation and patient-centered care, and underscores the importance of a coordinated, lifespan approach in managing multisystem genetic disease.
Mayo Clinic in Rochester, Minnesota, has been designated a Center of Excellence by the Bardet-Biedl Syndrome Foundation for the clinical management of Bardet-Biedl syndrome. It is one of only four centers in the United States to receive this designation across both pediatric and adult care.
For more information
Pomeroy JJ, et al. Streamlining diagnosis of Bardet-Biedl syndrome: New diagnostic algorithm with updated criteria. American Journal of Medical Genetics. In press.
Bardet-Biedl syndrome (BBS). Mayo Clinic.
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